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Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.
J Genet Couns. 2022 Aug;31(4):860-867. doi: 10.1002/jgc4.1556. Epub 2022 Feb 1.
J Genet Couns. 2022.
PMID: 35106875
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
Inaba A, Maeda A, Yoshida A, Kawai K, Hirami Y, Kurimoto Y, Kosugi S, Takahashi M.
Inaba A, et al. Among authors: kawai k.
Int J Mol Sci. 2020 Oct 22;21(21):7817. doi: 10.3390/ijms21217817.
Int J Mol Sci. 2020.
PMID: 33105608
Free PMC article.
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Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.
Maeda A, Yoshida A, Kawai K, Arai Y, Akiba R, Inaba A, Takagi S, Fujiki R, Hirami Y, Kurimoto Y, Ohara O, Takahashi M.
Maeda A, et al. Among authors: kawai k.
Jpn J Ophthalmol. 2018 Jul;62(4):451-457. doi: 10.1007/s10384-018-0601-x. Epub 2018 May 21.
Jpn J Ophthalmol. 2018.
PMID: 29785639
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